Annotation

Position
chr11 : 111957680
Genotype
C/T
Gene
SDHD   (Entrez-ID: 6392)

HGVS DNA code
NM_003002.2.c.49C>T
HGVS protein code
NP_002993.1.p.R17X
Link
OMIM-ID
602690
Pubmed Links
Pubmed Article 18213727
MutationTaster

Author:
GeneTalk
Text:
Paraganglioma
Created at December 01, 2011 04:07, Last update December 01, 2011 04:07
Voting
Pathogenic
Clinical significance
Pathogenic
Votes
StarsClinical significance
53 votes
40 votes
30 votes
20 votes
10 votes

Comments


Back